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Medical team

Robert Nussbaum
M.D., CMO Dr. Nussbaum has served as Invitae’s Chief Medical Officer since August 2015. Prior to joining Invitae, he was chief of the Division of Genomic Medicine at UCSF Health where he also held leadership roles in the Cancer Genetics and Prevention Program beginning in January 2009 and the Program in Cardiovascular Genetics beginning in July 2007. From April 2006 to August 2015, he served as a member of the UCSF Institute for Human Genetics. Prior to joining UCSF Health, Dr. Nussbaum was chief of the Genetic Disease Research Branch of the National Human Genome Research Institute, one of the National Institutes of Health, from 1994 to 2006. He is a member of the Institute of Medicine and a fellow at the American Academy of Arts and Sciences. Dr. Nussbaum is a board-certified internist and medical geneticist who holds a B.S. in Applied Mathematics from Harvard College and an M.D. from Harvard Medical School in the Harvard-MIT joint program in Health Sciences and Technology. He completed his residency in internal medicine at Barnes-Jewish Hospital and a fellowship in medical genetics at the Baylor College of Medicine.

Swaroop Aradhya
Ph.D., FACMGDr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine.

Brandon Bunker
Ph.D. Dr. Bunker joined Invitae in 2015 as a clinical genomics scientist focusing on variant interpretation and gene curation. Prior to coming to Invitae, Brandon was a postdoctoral fellow at Children's Hospital Oakland Research Institute. He earned his doctorate in Molecular and Cell Biology from University of California, Berkeley, where he established a laboratory pipeline for next-generation sequencing technology.

Ed Esplin
M.D., Ph.D., FACMG Dr. Esplin is board-certified in clinical genetics and internal medicine. Prior to joining Invitae, he practiced clinical genetics at Kaiser Permanente's San Francisco Medical Center. Dr. Esplin completed the medical scientist training program at the University of Texas Southwestern and obtained a doctorate in genetics, with an emphasis in cancer genetics, along with his medical degree. After his internal medicine residency at UT Southwestern, he was appointed assistant professor of the University of Texas Southwestern Department of Internal Medicine. He also practiced as a hospitalist at the Dallas VA Medical Center. Dr. Esplin completed his clinical fellowship training in medical genetics at Stanford University. He pursued his postdoctoral fellowship in genetics and genomics under Mike Snyder in Stanford's department of genetics, during which time he was supported by an award from the Tashia and John Morgridge Endowed Postdoctoral Fellowship program and by the National Institutes of Health-funded Stanford Clinical and Translational Science Award.

Tina Hambuch
Ph.D., FACMGDr. Hambuch joined Invitae in 2016 to focus on clinical genetic testing applications in pediatrics. She is a diplomate of the American Board of Medical Genetics, a fellow of the American College of Medical Genetics, and a member of the American Society of Human Genetics, Association for Molecular Pathologists, and American Society of Human Genetics. Prior to joining Invitae, Dr. Hambuch was instrumental in launching the first CLIA-certified, and CAP-accredited laboratory offering genome sequencing at Illumina where, over eight years, she built and oversaw a team that implemented and improved the analytical and clinical components of clinical testing and reporting for genome scale testing. She also launched a certified training program for laboratory technicians. Dr. Hambuch earned her Ph.D. at UC Berkeley, was a post-doctoral fellow at the CDC, an assistant professor at University of Munich, and was a scientist at Ambry Genetics. Her medical molecular genetics training was performed at UCLA. She serves on multiple working groups and has authored multiple publications on the standards, guidelines, and applications of clinical next-generation sequencing.

Eden Haverfield
Ph.D., FACMGDr. Haverfield is board-certified in clinical molecular genetics and has more than 12 years of experience in the medical genetics field. Prior to joining Invitae, Dr. Haverfield was the director of the whole exome sequencing program at GeneDx; before that, she was the assistant director of the genetic services laboratory at the University of Chicago. Dr. Haverfield earned her Master of Science in human biology and her doctorate in biological anthropology from the University of Oxford in Oxford, England. While she was earning her doctorate and through her post-doctoral fellowship at Oxford, Dr. Haverfield worked with professors Ryk Ward and Sir David Weatherall on genetic modifiers of sickle-cell disease. She then spent two years as a post-doctoral fellow in clinical pharmacology and pharmacogenomics, studying genetic variation in drug-metabolizing enzyme genes, before completing her board-accredited clinical molecular genetics training at the University of Chicago.

Britt Johnson
Ph.D., FACMGDr. Johnson is board-certified in clinical molecular genetics and clinical biochemical genetics by the American Board of Medical Genetics and Genomics. She is also board-certified in Clinical Chemistry by the American Board of Bioanalysis. Prior to joining Invitae, Dr. Johnson was the assistant lab director of the Clinical Biochemical Genetics Diagnostic Laboratory at the University of Miami, where she was instrumental in establishing their high-throughput enzyme testing for lysosomal storage disorders in dried blood spots. She also played an active role in the molecular diagnoses of patients with lysosomal storage disorders in the university's Clinical Molecular Genetics Diagnostic Laboratory. Dr. Johnson received her doctorate in genetics at the University of Wisconsin–Madison in 2008. She completed her clinical molecular genetics fellowship in 2011 at the University of California, San Francisco and her clinical biochemical genetics fellowship in 2012 at the University of Miami. Dr. Johnson has a special interest in lysosomal storage disorders, newborn screening and the molecular diagnosis of inborn errors of metabolism.

Kristin McDonald Gibson, Ph.D.Dr. McDonald Gibson is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. Prior to joining Invitae, Dr. McDonald Gibson completed her clinical molecular genetics fellowship at The Children’s Hospital of Philadelphia where she was part of the team that developed and launched the clinical exome sequencing test for the hospital. Dr. McDonald Gibson received her doctorate in genetics and genomics from Duke University in 2013. While at Duke, she established an analysis pipeline that used exome sequencing to identify mutations that cause limb-girdle muscular dystrophy, and she was a member of a neonatal genomics exome sequencing group that investigates the causes of unexplained medical conditions in children.

Keith Nykamp
Ph.D.Dr. Nykamp has been studying the influence of genetic variation on phenotype in academic and diagnostic settings for more than 15 years. He’s been with Invitae since 2013 and leads the effort to establish and maintain a reliable evidence-based system for variant classification. Before joining Invitae, Dr. Nykamp worked as a molecular geneticist and director of next-generation sequencing at Prevention Genetics.

Karen Ouyang
Ph.D., FACMGDr. Ouyang is a clinical molecular geneticist and cytogeneticist. Before joining Invitae, Dr. Ouyang was Assistant Director of the Cytogenetics Laboratory in the Division of Diagnostic Genomics and Assistant Professor of Clinical Medical and Molecular Genetics at Indiana University. There, she led the development and launch of high resolution SNP chromosomal microarray analysis for clinical testing. Dr. Ouyang received her Ph.D. in Genetics from the University of Chicago with an interest in the molecular mechanisms that underlie cancer susceptibility. She studied the function of the Bloom’s syndrome protein, BLM, in maintaining genomic integrity. Dr. Ouyang subsequently completed board-accredited clinical cytogenetics training at the University of Chicago and molecular genetics training at Indiana University with a focus on characterizing genomic aberrations of hematologic malignancies and solid tumors.

Matteo Vatta
Ph.D., FACMGDr. Vatta is a clinical molecular geneticist with more than 20 years of experience in cardiovascular genetic research and 10 years in cardiovascular genetic diagnostics. Before joining Invitae, Dr. Vatta was the Director of the Cardiovascular Genetics Section at the Indiana University Molecular Genetics Diagnostic Laboratory in the Division of Diagnostic Genomics and Associate Professor of Clinical Medical and Molecular Genetics at Indiana University. There, he led the development and launch of next-generation sequencing analysis for clinical testing. Dr. Vatta received his Ph.D. in molecular genetics from the Scuola Internazionale Superiore di Studi Avanzati/International School of Advanced Studies (SISSA/ISAS) in Trieste, Italy, with a thesis on the “Molecular Genetic Approach to the Study of Dilated Cardiomyopathy." Subsequently, Dr. Vatta did his post-doctoral fellowship at the Department of Pediatrics (Cardiology) at Baylor College of Medicine, Houston, TX with particular focus on cardiomyopathies and channelopathies. Later, Dr. Vatta completed the Clinical Molecular Genetics fellowship at the Department of Huma and Molecular Genetics at Baylor College of Medicine, accredited for the American Board of Medical Genetics and Genomics certification.

Ian Wilson
Ph.D., FACMGDr. Wilson is a board-certified molecular geneticist in both Canada and the United States. He received his undergraduate degree in medical laboratory science and his Ph.D. in the field of cancer genetics from the University of British Columbia, which he followed with a molecular genetics fellowship at the Children's and Women's Hospital of British Columbia and the British Columbia Cancer Agency. Prior to joining Invitae, Dr. Wilson was the Associate Laboratory Director at Fulgent Diagnostics, where he was involved in many aspects of establishing the molecular diagnostic laboratory. In addition, he was a scientific editor at N-of-One, Inc., a precision-medicine company in the oncology market.

Tom Winder
Ph.D., FACMGDr. Winder has been involved with genetic diagnosis of neuromuscular disorders for 15 years. Prior to joining Invitae, he was co-director at PreventionGenetics, where he oversaw neuromuscular testing. His efforts there led to the availability of affordable tests for inherited muscle and nerve disorders, many of which had previously been unavailable in North America. Dr. Winder completed his medical genetics training in 2002 at the University of Iowa and is certified by the American Board of Medical Genetics and Genomics in clinical molecular genetics. He was an assistant professor in the department of pathology at the University of Iowa; he was also co-director of the university's molecular pathology laboratory until 2007.

Genetic counselors

Sienna Aguilar
M.S., CGC Sienna is board-certified by the American Board of Genetic Counseling. Prior to joining Invitae, she was a laboratory genetic counselor at GeneDx, where she specialized in cardiovascular genetic testing. Sienna is an active member of the National Society of Genetic Counselors (NSGC) and NSGC's cardiovascular genetics special interest group. She holds a Master of Science in genetic counseling from Wayne State University.

Jennifer Axilbund
M.S., CGC Jennifer is a board-certified genetic counselor, who provided clinical risk evaluation and management for inherited cancer predisposition for 16 years at the Johns Hopkins Hospital in Baltimore, Maryland. Before joining Invitae in 2016, she was a member of the National Comprehensive Cancer Network (NCCN) “Genetic/Familial High-Risk Assessment: Breast and Ovarian” panel. She is also one of the authors of the US Multi-Society Task Force guidelines on genetic evaluation and management of Lynch syndrome. In addition to being a clinical liaison for Invitae, she is an Adjunct Assistant Professor of Oncology with the Johns Hopkins University School of Medicine. Jennifer holds a Bachelor of Science from Virginia Polytechnic Institute and State University, a Master of Science in Molecular Biology and Genetics from Northwestern University, and a Master of Science in Biophysics and Genetics (Genetic Counseling) from the University of Colorado.

Amy Daly
M.S., CGC Amy is a board-certified genetic counselor with more than eight years of clinical and laboratory genetic counseling experience. Prior to joining Invitae, she was a pediatric genetic counselor at Children's Hospitals and Clinics of Minnesota. Amy has also worked at GeneDx and Johns Hopkins University School of Medicine. At GeneDx, she specialized in cardiovascular genetic testing and exome sequencing. At Johns Hopkins, she provided genetic counseling as part of a clinical and research program dedicated to arrhythmogenic right ventricular dysplasia. Amy is a member of both the National Society of Genetic Counselors (NSGC) and the society's cardiovascular genetics special interest group. She holds a Master of Science in genetic counseling from Northwestern University.

Emily Decker
M.S., LCGCEmily is a board-certified genetic counselor who is licensed in the state of California. Prior to working with Invitae, Emily worked as a pediatric genetic counselor at Seattle Children's Hospital and the State of Alaska Genetics and Birth Defects Clinics. She spent five years at Kaiser Permanente providing genetic counseling in prenatal, general pediatric, cardiology, and cancer genetics settings. Emily was also a Product Specialist with GeneDx concentrating on cardiovascular genetic testing. She holds both a master's degree in medical genetics and a Bachelor of Science from the University of Wisconsin-Madison. She is a member of the National Society of Genetic Counselors (NSGC) and the society's cardiovascular genetics and industry special interest groups.

Tali Ekstein
M.S., LCGC Tali is a licensed and board-certified genetic counselor with more than seven years of clinical counseling experience and expertise in adult and cancer genetics. Tali has worked at Cedars-Sinai Medical Center, the Roy and Patricia Disney Family Cancer Center and the USC Norris Comprehensive Cancer Center. She has also worked in cancer genetics research on testicular cancer and carcinoma in situ of the breast. Through the organization GeneTestNow, she is actively involved in promoting genetic carrier screening. Tali joined Invitae after having been an Invitae customer; she currently works with the client services team. She is an active member of the National Society of Genetic Counselors (NSGC) and the American Society of Human Genetics. Tali holds a Bachelor of Science from Pennsylvania State University, where she majored in genetics and developmental biology, a Master of Science in genetic counseling from California State University, Northridge and an MBA from American Jewish University.

Brandy Freschi
M.S., CGCBrandy is a board certified genetic counselor with over 9 years of experience. Prior to starting her role at Invitae as a Cancer GC within the Clinical Consult team, Brandy was the founding and primary genetic counselor for a physician's private practice serving the majority of Northern Nevada. In this role, she provided both prenatal and cancer genetic counseling services to patients, developed multiple community wide genetic services and protocols, trained other genetic counselors, and provided genetic education for the medical and lay community. Brandy is a member of the National Society of Genetic Counselors. She holds a Master's degree in Genetic Counseling from the University of Pittsburgh and a Bachelor's degree in Biology & Psychology of Health and History & Philosophy of Science also from the University of Pittsburgh.

Jennifer Fulbright
M.S., CGC Jennifer is a board-certified genetic counselor with more than seven years of clinical genetic counseling experience. Before joining Invitae, Jennifer was a cancer genetic counselor at Beaumont Health System and the Karmanos Cancer Institute. While in that role, Jennifer provided counseling and risk assessment to individuals and families who were at risk of having a hereditary cancer syndrome. Jennifer is an active member of the National Society of Genetic Counselors (NSGC). She holds a Master of Science in genetic counseling from Wayne State University and a Bachelor of Science in microbiology from Michigan State University.

Amy Fuller
M.S., CGC Amy is board-certified by the American Board of Genetic Counseling and has more than eight years of experience as a clinical and laboratory genetic counselor. Before joining Invitae, Amy was a laboratory genetic counselor at GeneDx and a pediatric genetic counselor at Children's National Medical Center in Washington, D.C. At GeneDx, Amy specialized in molecular cytogenetic testing and diagnostic exome sequencing. She is an active member of the National Society of Genetic Counselors (NSGC). Amy holds a Bachelor of Science in biology from James Madison University and a Master of Science in genetic counseling from University of South Carolina.

Christy Hartshorne
M.S., LCGC Christy is a board-certified genetic counselor who is licensed in the state of California. Prior to Invitae, Christy worked in the Children’s Hospital & Research Center Oakland's hematology and oncology department. Clinical rotations included Queen Charlotte's & Chelsea Hospital in London, University of Massachusetts Medical School in Worcester, Massachusetts, and Women & Infants in Providence, Rhode Island. She has participated in research on the clinical course of sickle beta-plus thalassemia and has presented findings on breast cancer patient preferences for genetic counseling. Christy holds a master's degree in genetic counseling from Brandeis University and a Bachelor of Science from the University of California, Davis, where she majored in genetics.

Michelle Hogue
M.S., LCGC Michelle is board certified by the American Board of Genetic Counseling and is licensed in the state of California. She has almost 9 years experience in clinical and laboratory genetic counseling. Michelle’s past clinical experience includes prenatal, pediatric, adult, and cancer genetic counseling with both the Central Washington Genetics Program and the Naval Medical Center San Diego (NMCSD). While at NMCSD, she expanded prenatal genetics services by developing a comprehensive genetics program to provide local access to adult and cancer genetic counseling for military families. Prior to joining Invitae, Michelle served as senior genetic counselor at the Illumina Clinical Services Laboratory where she specialized in clinical whole-genome sequencing for undiagnosed disease cases, and managed a team of genetic counselors and variant curation scientists. Michelle holds a Bachelor of Science in psychology from Central Washington University, and a Master of Science in genetic counseling from California State University, Northridge.

Jennifer Holle
M.S., CGC, Jennifer is a board-certified genetic counselor. Before joining Invitae she worked at the University of Minnesota Molecular Diagnostics Laboratory, specializing in variant interpretation and report writing for a wide variety of indications. Previously she worked in the molecular genetics laboratory at Cincinnati Children’s Hospital, where she specialized in primary immunodeficiencies and whole exome sequencing. In addition to her laboratory work, Jennifer has experience providing clinical genetic counseling to patients with cancer and heritable immunodeficiency syndromes. She holds a master of science in genetic counseling from the University of Minnesota and a bachelor of arts in biology from Carleton College.

Daniela Iacoboni
M.S., LCGC Daniela is a board-certified genetic counselor, licensed in the state of California, and has 15 years of clinical experience. She holds an adjunct faculty position with the Michigan State University College of Osteopathic Medicine. Prior to joining Invitae, Daniela worked at Michigan State University as both a laboratory and pediatric genetic counselor. The first eight years of her career were spent in a high-volume perinatal maternal–fetal medicine clinic at Jacobi Medical Center in New York. Daniela earned her Master of Science in genetic counseling from Sarah Lawrence College.

Emily James
M.S., LCGC Emily is an ABGC board-certified genetic counselor with nine years of clinical genetic counseling experience. Before joining Invitae, she worked in Pittsburgh for the Allegheny Health Network in the Cancer and Cardiovascular Genetics Programs. Prior to that, she worked as a research coordinator and genetic counselor in the Cancer Genetics Program at the University of Pittsburgh Medical Center and as a pediatric genetic counselor at Children's Hospital of Pittsburgh. She is an adjunct faculty member at the University of Pittsburgh and a part-time faculty member at Robert Morris University. She holds a Master of Science in genetic counseling from the University of Pittsburgh and a Bachelor of Science in biology from Penn State Behrend.

Amirah Khouzam
M.S., CGC Amirah is board certified by the American Board of Genetic Counseling. Prior to joining Invitae, she served as a senior genetic counselor at the Illumina Clinical Services Laboratory, where she specialized in clinical whole genome sequencing for both undiagnosed disease cases and healthy adults. She also managed a team of genetic counselors and scientists focused on variant curation. She holds a Bachelor of Science in neurobiology from the University of California at Davis, a Master of Arts in health psychology from Santa Clara University, and a Master of Science in human genetics and genetic counseling from Stanford University.

Karen Leydiker
M.S., LCGC Karen is a licensed, board certified genetic counselor with more than 16 years of experience as a clinical genetic counselor specializing in inborn errors of metabolism and neurometabolics. Prior to joining Invitae, she was a genetic counselor for the Division of Metabolic Disorders at the Children’s Hospital of Orange County (CHOC). While there, she provided care and case management for patients with inborn errors of metabolism, including lysosomal storage disorders, glycogen storage disorders and mitochondrial myopathies/disorders of energy metabolism. She coordinated the State of California metabolic newborn screening triage, biochemical confirmatory testing, molecular testing and genetic counseling for the CHOC Metabolic Center and participated in multiple research projects. She served as a lecturer for genetic counseling interns from the University of California, Irvine and coordinated their external metabolic rotations at CHOC Children’s Hospital. She holds a Bachelor of Arts degree from the University of California, Los Angeles, a Master of Arts in counseling psychology from the University of Southern California and a Master of Science in genetic counseling from the University of California, Irvine.

Kate Lynch
M.S., LCGC Kate is a licensed, board-certified genetic counselor with more than 17 years of experience. Specializing in cancer and cardiology genetics, she has provided clinical care in both academic and industry-based settings, including University Hospitals of Cleveland, Myriad, the Cleveland Clinic and GeneDx. With a passion for alternative delivery models for genetic counseling, Kate has developed telephone-based programs as a means to provide care to patients without local genetic counseling resources. Kate is a member of the National Society of Genetic Counselors (NSGC), including the cancer and cardiovascular special interest groups. She also serves as an advisory board member for the Case Western Reserve University Genetic Counseling Program. She obtained her undergraduate degree with a dual major in Biology and Psychology from Baldwin Wallace college, and went on to pursue a Master of Science in Medical Genetics from the University of Cincinnati.

Ariadna Martinez
M.S., LCGC Ariadna is a board-certified genetic counselor, licensed in the state of California, with more than 13 years of experience providing services to diverse patient populations. She has a particular interest in making genetic testing and counseling accessible to all. Prior to joining Invitae, she worked as a prenatal genetic counselor at UCLA-Olive View Medical Center, providing counseling services to English- and Spanish-speaking patients. She later served as a genetic counselor and research coordinator at UCLA Neuropsychiatric Institute working with parents of deaf/hard of hearing children as well as deaf/heard of hearing adults. She spent several years as a clinical genetic counselor at UCLA Jules Stein Eye Institute in the Retinal Disorders and Ophthalmic Genetics division where she was also a research coordinator of a Stargardt disease study and a study on inherited ophthalmic diseases. She later joined the cardiogenetics program at Cedars-Sinai Medical Center as a cardiovascular genetic counselor working with individuals and families with aortopathies, cardiomyopathies, familial hypercholesterolemia, and inherited arrhythmias. She worked as a laboratory genetic counselor at Ambry specializing in cardiovascular genetic testing just prior to joining Invitae. Ariadna is a member of the National Society of Genetic Counselors and has a Masters in Human Genetics from the University of California in Los Angeles and a Masters in Genetic Counseling from California State University, Northridge.

Scott Michalski
M.S., LCGC Scott is a licensed, board-certified genetic counselor who joined Invitae after 14 years of clinical practice. Previously he provided genetic counseling and cancer risk assessment in the cancer and maternal fetal medicine programs at Northwestern Medicine. At Indiana University, he was a member of the maternal fetal medicine team providing genetic counseling for patients with high risk pregnancies and managing a program supporting families experiencing perinatal loss through etiologic assessment. He holds a Master of Science in Medical Genetics from the University of Wisconsin, Madison and a Bachelor of Science in Biology from the University of Illinois, Urbana-Champaign.

Rachel Miller
M.S., LCGC Rachel is an ABGC board-certified genetic counselor with 12 years of clinical genetic counseling experience. Prior to joining Invitae, she worked at Kaiser Permanente Oakland for nine years, providing genetic counseling in prenatal, general pediatric, general adult, and cancer genetics settings. During her last two years at Kaiser, she was a cancer genetics specialist. Rachel also worked as a cancer genetic counselor at the UCSF Cancer Risk Program and as a prenatal counselor at California Pacific Medical Center in San Francisco prior to working at Kaiser. Rachel earned a Bachelor of Science in counseling psychology from Northwestern University and a Master of Science in human genetics from Sarah Lawrence College. Rachel has a special interest in alternative healthcare delivery models and feels passionate about the mission of making genetic testing and genetic counseling accessible to all.

Erin O'Leary
M.S., CGC Erin is a board-certified genetic counselor with more than 10 years of experience in cancer genetics. Prior to joining Invitae, Erin worked at University of California Los Angeles and US Oncology. She provided genetic counseling to patients with many types of inherited cancers, coordinated multiple programs, and educated healthcare providers. She has been an invited speaker at professional conferences and has several publications in peer-reviewed journals. Erin is an active member of the National Society of Genetic Counselors (NSGC). She holds a Bachelor’s Degree in biochemistry from Duquesne University and a Master's Degree in genetic counseling from the University of Pittsburgh.

Marina Rabideau
M.S., LCGC Marina is a certified genetic counselor who is licensed in the state of California. Before joining Invitae, Marina worked as a genetic counselor at Signature Genomic Laboratories, where she answered client inquiries on clinical genetic testing. She did a clinical rotation at Cedars-Sinai Medical Center in Los Angeles, where she counseled patients with rare inherited cancer syndromes. Marina has previously done research on carriers of BRCA1 and BRCA2 mutations, patients with cystic fibrosis, patients with 22q11.2 deletion syndrome and uptake of genetic testing by genetic counselors. She is a member of the National Society of Genetic Counselors (NSGC) and the Canadian Association of Genetic Counsellors. She holds a Master of Science degree from the University of Minnesota's molecular, cellular, developmental biology and genetics program, where her focus was on genetic counseling, and a Bachelor of Science from the University of Toronto.

Darlene Riethmaier
M.S., CGC Darlene is a board-certified genetic counselor with more than five years of clinical and laboratory genetic counseling experience. Before joining Invitae, Darlene was the lead genetic counselor of clinical microarray services at GeneDx. While in that role, Darlene specialized in copy number analysis and interpretation. She was also an integral part of the GeneDx prenatal genetics program and supervised the genetic counseling assistants. Darlene is an active member of the National Society of Genetic Counselors (NSGC) and the International Collaboration for Clinical Genomics. She holds a Master of Science in genetic counseling from the University of Arkansas for Medical Sciences and a Bachelor of Science from Baylor University, where she majored in biology.

Jackie Tahiliani
M.S., CGC Jackie is board-certified by the American Board of Genetic Counseling and has more than five years experience as a laboratory genetic counselor. Prior to joining Invitae, Jackie was a laboratory genetic counselor at GeneDx specializing in cardiovascular genetic testing and diagnostic whole exome sequencing. She is an active member of the National Society of Genetic Counselors (NSGC). She holds a Master of Science in genetic counseling from Howard University and a Bachelor of Science from the University of Virginia, where she majored in biology.

Chris Tan
M.S., LCGC Chris is a licensed, board-certified genetic counselor. Prior to joining Invitae, he was a senior genetic counselor at the University of Chicago Genetic Services Laboratory, an academic molecular diagnostic laboratory specializing in rare mendelian disorders. Chris has also previously provided genetic counseling in prenatal, general pediatric, newborn screening and specialty (neurogenetics and ophthalmology) clinics at the University of Chicago. In addition, Chris has also specialized in somatic and germline variant interpretation at the Centre for Clinical Genomics in Vancouver, British Columbia and he is a Clinical Instructor in the Department of Medical Genetics at the University of British Columbia. Chris is an active member of the National Society of Genetic Counselors (NSGC) and the Canadian Association of Genetic Counsellors. He holds a Master of Science in Human Genetics from Sarah Lawrence College and a Bachelor of Science in Biochemistry from the University of Waterloo.

Hannah White
M.S., LCGC Hannah is a board-certified genetic counselor who is licensed in the state of California. Hannah graduated from California State University-Stanislaus with a Master of Science in genetic counseling. Hannah is a member of Invitae’s neurology team, and she has a special interest in hereditary neurodegenerative and psychiatric conditions. She completed a 16-week clinical rotation at UCSF’s Memory and Aging Center, and has more than five years of clinical experience working with individuals with schizophrenia and other psychiatric illnesses. She also has a Master’s Degree in biological psychology from the University of Wisconsin-Madison, where she studied the genetic underpinnings of neurodevelopmental conditions including schizophrenia and autism spectrum disorders. Hannah is an active member of the National Society of Genetic Counselors (NSGC) psychiatric special interest group, and currently serves as co-chair of that group.

Arielle Yorczyk
M.S., CGC Arielle is a board-certified genetic counselor with more than five years of clinical genetic counseling experience. She implemented and directed the cancer genetics clinic at Austin Cancer Center and was also a genetic counselor with the University of Texas Southwestern Medical Center. Her primary focus is oncology, but she has also seen patients for whole exome testing, hematological conditions, and non-oncologic pediatric conditions. Arielle is a member of the National Society of Genetic Counselors (NSGC) cancer special interest group. She holds her Master of Science degree in genetic counseling from Virginia Commonwealth University Medical Center and graduated magna cum laude with her Bachelor of Arts degree from Virginia Polytechnic Institute and State University. Her interests include promoting patient access to appropriate genetic testing and cancer risk assessment by way of improving clinician awareness and understanding of genetic testing options and implications.

Barbara Hamlington
M.S., CGC Barbara is an ABGC board-certified genetic counselor with expertise in cancer genetics. Prior to joining Invitae, Barbara gained both clinical and management experience as the supervising genetic counselor at Rocky Mountain Cancer Centers (RMCC), a large private medical oncology practice in Colorado. In this role, she provided genetic counseling to patients at risk for hereditary cancer and hematological conditions. Additionally, as the first genetic counseling supervisor at RMCC, Barbara developed a clinical genetics business model to increase patient access to genetic counseling services through process improvements, clinician education, and community engagement. Barbara holds a Master of Science in genetic counseling and a Bachelor of Science in neuroscience, both from the University of Michigan, Ann Arbor.

Andrea Nagl
M.S., CGC Andrea is board certified by the American Board of Genetic Counseling and has more than ten years of experience as a clinical and laboratory genetic counselor. Before joining Invitae, Andrea was a laboratory genetic counselor at Ambry Genetics and a clinical genetic counselor at Aurora Health Care and the Medical College of Wisconsin with special interests in cardiovascular and prenatal genetics. She is an active member of the National Society of Genetic Counselors (NSGC) and the society's cardiovascular genetics special interest group. Andrea holds a Master of Science in medical genetics from the University of Cincinnati.

Sarah Klemm
M.S., CGC Sarah is a board-certified genetic counselor. Prior to joining Invitae, Sarah was a laboratory genetic counselor for Courtagen Life Sciences, specializing in report writing and variant interpretation. Previously she worked at Spectrum Health where she provided genetic counseling in general, pediatric, and adult genetics clinics. Sarah is an active member of the National Society of Genetic Counselors (NSGC). She holds a Master of Science in genetic counseling from Wayne State University and a Bachelor of Science in microbiology from the Lyman Briggs school at Michigan State University.

Stacey Wong
M.S., LCGC Stacey is a licensed and board-certified genetic counselor with two decades of experience in clinical, research, and laboratory settings. Prior to joining Invitae’s Metabolic team, she was a clinical product manager and genetic counselor at Courtagen Life Sciences, a diagnostic laboratory specializing in pediatric neurological conditions and mitochondrial disease. Her other professional experience includes prenatal counseling at Genzyme Genetics, coordinator of the Lysosomal Storage Disease Research Center - Cedars-Sinai Medical Center, senior genetic counselor participating in pediatric, metabolic, and specialty clinics at Childrens Hospital Los Angeles, and as a member of the CHLA Department of Pathology’s Utilization Committee. She has particular interest and expertise in mitochondrial disease through several years of coordinating patient clinical care, participating in research studies, and presenting workshops at the NSGC and the Mitochondrial Medicine Society meetings. She is a member of the American Society of Human Genetics. She holds a Master of Science in Genetic Counseling from California State University Northridge, a Master of Traditional Oriental Medicine from Emperors College, and a Bachelor of Science in Cell and Molecular Biology from the University of California Los Angeles.

Advisory Board

Michael J. Ackerman
M.D., Ph.D.Dr. Ackerman is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. He is a consultant in cardiovascular diseases and pediatric cardiology and serves as director of Mayo Clinic’s Long QT Syndrome Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory. He is co-director of Mayo’s translational genomics program in hypertrophic cardiomyopathy. Dr. Ackerman was born and raised in Iowa. He graduated valedictorian from Sheldon High School in 1984 and graduated summa cum laude from Luther College in Decorah, Iowa, in 1988 with majors in chemistry and mathematics. He received his M.D. and Ph.D. degrees from Mayo Medical School and Mayo Graduate School in 1995 and completed residency (pediatrics) and fellowship (pediatric cardiology) training in the Mayo Graduate School of Medicine in 2000. He has been a faculty member of Mayo Clinic since July 2000. As director of Mayo Clinic’s Long QT Syndrome/Inherited Arrhythmia Syndrome Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Dr. Ackerman strives to fulfill the two-fold objective of medical education and biomedical research as stated by Dr. Charles H. Mayo: “to heal the sick and to advance the science.”

Michael Alper
M.D.Dr. Michael Alper co-founded Boston IVF in 1986. He is double board-certified in Obstetrics and Gynecology as well as Reproductive Endocrinology and Infertility. He specializes in all aspects of infertility care. Dr. Alper is also an Associate Clinical Professor in the Department of Obstetrics, Gynecology, and Reproductive Biology at Harvard Medical School, where he teaches the next generation of fertility experts and performs crucial research to improve future care. He contributes to infertility articles, abstracts, and letters, and actively lectures at scientific meetings throughout the world. He is the author of The Boston IVF Handbook of Infertility, which is widely considered the preeminent print resource in the field of reproductive medicine. His continued dedication to improving the efficiency of fertility treatments has led to Boston IVF becoming the first ISO-certified IVF clinic in North America. This prestigious designation underscores his commitment to quality and safety in the field. Dr. Alper grew up in Canada and received his undergraduate and medical school degrees from McGill University in Montreal. Following medical school, he spent an internship year at the University of Toronto before being accepted to the Harvard Medical School Obstetrics and Gynecology Residency Program at the Beth Israel Hospital in Boston. After completing his OB/GYN residency, Dr. Alper returned to Canada to focus on clinical research in reproductive medicine at the University of Ottawa. Subsequently, he returned to Boston to complete his research fellowship in reproductive endocrinology in the Department of Obstetrics and Gynecology at Beth Israel Hospital and the Harvard Medical School in Boston. IVF technology was in its very early stages in 1986 when Dr. Alper co-founded Boston IVF, one of the nation’s first free-standing IVF centers. The goal was to transform state-of-the-art technologies into a patient-centered, outpatient setting. Dr. Alper has lead Boston IVF as its Medical Director for over 20 years and remains instrumental in helping to make it one of the most well-respected, academically-affiliated IVF centers in the world.

Olaf Bodamer M.D.,
Ph.D., FACMG, FAAPDr. Bodamer is a board certified pediatrician, clinical and biochemical geneticist who is at the nexus of patient centered, translational science where “bench meets the bedside.” As associate chief of the Division of Genetics and Genomics he provides leadership to its clinical operation and the clinical diagnostic laboratory. Dr. Bodamer is also an associate professor at Harvard Medical School. Following his postdoctoral training at Baylor College of Medicine, Dr. Bodamer has been tenured faculty at the University Medical School Vienna and more recently at the University of Miami where he was professor of human genetics, molecular biology and biochemistry. His research focuses on the dynamic integration and application of multiple “OMICS” (genome, transcriptome, methylome, metabolome, microbiome) to different disease and health states including selected orphan diseases, premature birth, and pregnancy. Using a systems biology approach his research aims to identify factors that critically impact phenotypic severity and variability while being amenable to therapeutic interventions. Dr. Bodamer is member of several editorial boards and has published more than 140 peer-reviewed articles and book chapters.

Julie Cohen
Sc.M., CGC Julie is a senior genetic counselor at the Kennedy Krieger Institute in Baltimore, Maryland, where she counsels and participates in the diagnostic evaluation and management of pediatric and adult patients with a wide range of neurogenetic disorders and developmental disabilities. She is also involved in clinical research in the Hugo W. Moser Research Institute at KKI. Her areas of expertise include leukodystrophies, myopathies, movement disorders, epilepsy, intellectual disability, and autism. Julie and her colleagues were early adopters of whole-exome sequencing, and she has extensive experience with clinical implementation of this technology. Julie is a key opinion leader in her field and frequent speaker at national meetings. Julie received her Master’s degree from the Johns Hopkins/National Human Genome Research Institute Genetic Counseling Training Program, for which she now serves on the Executive Committee and is actively involved in mentoring and clinical supervision of students. Julie is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling.

Laurie Demmer
M.D., M.A. Dr. Demmer is currently the Director of Genetics and the Associate Pediatric Residency Program Director at Levine Children’s Hospital in Charlotte, NC. She also serves as a member of the Board of Directors of the ACMG and has been a past Chair of the Program Committee as well as a member of the MOC Committee and Membership Committee. She is a current member of the ABMS Committee on Continuing Certification. Previously, Dr. Demmer served as President of the ABMGG, as well as President of the APHMG. She was President of the Medical Genetics Residency Program Directors Group and is the current Chair of the ACGME Review Committee for Medical Genetics and Genomics. Dr. Demmer divides her time between Clinical Genetics, Medical Education and Clinical Research. She is an author on over 75 peer-reviewed works including publications, reviews, and book chapters. Her research interests include dysmorphology, applications of genetic and genomic testing in clinical practice, ethics, and medical education. Dr. Demmer graduated from Dartmouth College and then received her M.D. and M.A. (Biochemistry) from Washington University in St. Louis. Subsequently she completed her Pediatrics Residency at St. Louis Children’s Hospital and Medical Genetics Fellowship at Washington University. Dr. Demmer joined the University of Massachusetts Medical School where she was the Division Chief in Genetics from 1995 to 2002. She then moved to Tufts University School of Medicine where she served as Professor of Pediatrics, Division Chief of Genetics and Metabolism, Program Director for the Genetics Residency, and Director for the Medical Student Genetics Course until 2012.

Eric Green
M.D., Ph.D.Dr. Green is a physician-scientist and entrepreneur with more than 10 years of experience building and operating innovative scientific organizations. He is currently an Entrepreneur in Residence at Third Rock Ventures, where he leads the formation of startup biotechnology companies. Eric previously was the head of translational research at MyoKardia, a biotechnology company discovering and developing drugs for patients with genetic heart diseases. Prior to joining Third Rock, Eric co-founded ILab Solutions, a provider of web-based software and services designed to streamline scientific research, which was acquired by Agilent and Respira Design, a medical device company treating asthma in the developing world, which won the Stanford $50K Entrepreneurship Challenge. He is a board-certified physician with training in internal and cardiovascular medicine from Brigham and Women’s Hospital. He received an M.D. and Ph.D. in Chemical and Systems Biology from Stanford University and an A.B. in History and Science from Harvard College.

Heather Hampel
M.S., LGCHeather has been the associate director for biospecimen research for The Ohio State University Comprehensive Cancer Center (OSUCCC) since January 2015. She is a professor in the Department of Internal Medicine and associate director of the Division of Human Genetics. She is also a professor in the Department of Internal Medicine and associate director of the Division of Human Genetics. She is the PI of both the Total Cancer Care® (TCC) protocol and the Ohio Colon Cancer Prevention Initiative (OCCPI). Heather is an internationally recognized cancer genetic counselor with a particular emphasis on universal tumor screening for Lynch syndrome. Heather was on the Board of Directors of the National Society of Genetic Counselors from 2003 to 2004 and of the American Board of Genetic Counseling from 2006 to 2011, serving as president in 2009 and 2010. She is currently an elected council member of the Collaborative Group of the Americas on Inherited Colorectal Cancer. Heather completed her bachelor of science degree in molecular genetics at The Ohio State University in 1993. She attained her master’s degree in human genetics from Sarah Lawrence College in 1995. She received certification from the American Board of Genetic Counseling in 1996. She worked as a cancer genetic counselor at Memorial Sloan-Kettering Cancer Center in Manhattan before moving to The Ohio State University in 1997.

Beth Karlan
M.D. Dr. Karlan is director of the Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, director of the Division of Gynecologic Oncology and the Gilda Radner Hereditary Cancer Program, and holds the Board of Governors Chair in gynecologic oncology at Cedars-Sinai Medical Center. She is also professor of Obstetrics and Gynecology at the David Geffen School of Medicine at the University of California at Los Angeles. Dr. Karlan’s research focuses on ovarian and other women’s cancers as well as inherited cancer susceptibility. She has authored over 300 research publications and is an American Cancer Society Clinical Research Professor. She is the editor-in-chief of the scientific journals Gynecologic Oncology and Gynecologic Oncology Reports. In 2012, Dr. Karlan was appointed by the White House to serve on the National Cancer Advisory Board, and in 2015 she was elected to membership in the National Academy of Medicine.

Elizabeth McNally
M.D., Ph.D. Dr. McNally is a cardiologist and geneticist who works with patients and their families, helping them understand genetic risks for inherited cardiovascular disorders. She joined Northwestern University in September 2014 to lead its Center for Genetic Medicine, which is committed to exploring and defining genetic variability and to using all available information on the human genome to better inform healthcare decisions. Her group has devised new methods for surveying human genetic data and has established animal and cell-based models of genetic diseases. Dr. McNally is supported by the National Institutes of Health, the Department of Defense and private foundations. She was president of the American Society for Clinical Investigation from 2011 to 2012 and serves as an advocate through her work with the Muscular Dystrophy Association, Parent Project Muscular Dystrophy and the American Heart Association. Dr. McNally received an Established Investigator Award by the AHA and a Distinguished Clinical Scientist Award by the Doris Duke Charitable Foundation.

Mary Norton
M.D. Dr. Mary Norton is a perinatologist and geneticist, and is Professor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the University of California, San Francisco. She is Director of the Prenatal Diagnostic Center at UCSF and co-Director of the UCSF Center for Maternal-Fetal Precision Medicine. She is also the President of the Perinatal Quality Foundation, past President of the Society for Maternal-Fetal Medicine, and Chair of the Publications Committee of the SMFM. Her clinical and research interests include genetic testing and its application to prenatal screening and diagnosis. She focuses on the unique aspects of translating new technologies into improved care for pregnant women and their fetuses. She is a co-Principal Investigator on a current multicenter collaborative study of whole-exome sequencing for the assessment of fetal structural abnormalities. Much of her recent research has involved cell free DNA screening and implementation into prenatal care.

Sulagna Saitta
M.D., Ph.D., FACMG Dr. Saitta is a pediatric geneticist and Clinical Director of the Center for Personalized Medicine at Children’s Hospital Los Angeles and Associate Professor of Clinical Pathology at Keck USC School of Medicine. She completed her undergraduate studies with honors at Johns Hopkins University receiving the Martin G. Larrabee Award for outstanding research in biophysics, followed by M.D./Ph.D. training in the Gibbon Scholars Program at Thomas Jefferson University in Philadelphia. She trained in pediatrics at St. Christopher’s Hospital for Children and in clinical genetics at Children’s Hospital of Philadelphia, where her research involved work on disorders of chromosome 22q, its structure, and sequence for the Human Genome Project. She remained as faculty at CHOP/University of Pennsylvania from 2001 to 2011 with NHLBI supported research on the mechanisms of genomic disorders and congenital cardiac defects. She was recruited by the late Dr. David Rimoin as Associate Director of Clinical Genetics at Cedars-Sinai and Associate Professor of Pediatrics at UCLA. In 2015, she joined Children’s Hospital Los Angeles, where she provides clinical support and interpretation for whole exome, chromosome microarray, and focused exome testing for constitutional disorders and pediatric cancer testing using the newly developed OncoKIDS RNA-DNA platform. Her research interests include genomic disorders, particularly of chromosome 22q11, which is an area of her expertise and focus of publications. She directs the multidisciplinary 22q11 disorders clinic at UCLA and participates in program project studies involving these disorders at UCLA and as part of the 22q International Consortium.

Raman Sankar
M.D., Ph.D. Dr. Sankar is Professor of Neurology and Pediatrics and Chief of Pediatric Neurology at the David Geffen School of Medicine at the University of California, Los Angeles. He holds the Rubin Brown Distinguished Chair in Pediatric Neurology. He is a member of an active pediatric epilepsy program at UCLA that is well known internationally for many advances in pediatric epilepsy surgery. Dr. Sankar has authored more than 250 research articles, reviews, and book chapters. He has also co-edited textbooks on pediatric epilepsy as well as the applications of basic science in epilepsy research. He is a member of the editorial board of Epilepsy & Behavior and has served on the editorial boards of Epilepsia and Epilepsy Currents. He is an elected Fellow of the American Academy of Neurology and an elected member of the American Pediatric society. Dr. Sankar is a member of the Professional Advisory Board of the Epilepsy Foundation. He has been a member of the Commission on Neurobiology of the International League Against Epilepsy and presently serves on the Commission’s Task Force for the Workshop on the Neurobiology of Epilepsy (WONOEP). Dr. Sankar is a graduate of the University of Bombay, India. He obtained his Ph.D. from the University of Washington in Medicinal Chemistry and was involved in teaching and research for several years prior to entering Tulane Medical School, where he obtained his M.D. He trained in pediatrics at the Children’s Hospital of Los Angeles. He completed his training in neurology and pediatric neurology at UCLA.

Joseph Sullivan
M.D. Dr. Sullivan is Associate Professor of Neurology and Pediatrics at the University of California San Francisco and Director of the UCSF Pediatric Epilepsy Center at Benioff Children’s Hospital. As a pediatric epilelptologist, he cares for all children with various forms of epilepsy but has specific clinical and research interests in Dravet Syndrome, PCDH19-related epilepsy and the evaluation of children for epilepsy surgery. Dr. Sullivan is a member of the American Epilepsy Society and serves on a number of boards including the Medical Advisory Board for the Dravet Syndrome Foundation, Chair of the PCDH19 Alliance Scientific Advisory Board, Chair of the Pediatric Epilepsy Research Consortium (PERC) Steering Committee, and a past Chair of the Epilepsy Foundation of Northern California Board of Directors, He is a graduate of Union College and Albany Medical College. He completed a pediatric residency at the Children’s Memorial Hospital of Northwestern University in Chicago, where he spent an additional year as pediatric chief resident. He then completed his Neurology, Child Neurology, and Epilepsy training at the Hospital of University of Pennsylvania and The Children’s Hospital of Philadelphia before taking his first faculty position at UCSF in 2007. He lives in Marin with his wife Sara, a pediatrician turned Urban Zen Integrative Therapist, and their two daughters Grace and Ella.

Eliezer Van Allen
M.D. Dr. Van Allen is an Assistant Professor of Medicine at Harvard Medical School, a clinician at Dana-Farber/Partners Cancer Care, and an Associate Member at the Broad Institute of MIT and Harvard. His research focuses on computational cancer genomics, the application of new technologies such as massively parallel sequencing to precision cancer medicine, and resistance to targeted therapeutics. As both a computational biologist and medical oncologist, he has specific expertise in clinical computational oncology and the development of algorithms to analyze and interpret genomic data for clinically focused questions. Overall, his research will make important contributions to the field of precision cancer medicine and resistance to targeted therapeutics via expertise and study in translational and clinical bioinformatics. Originally from Los Angeles, CA, he studied Symbolic Systems at Stanford University, obtained his M.D. from UCLA, and completed a residency in internal medicine at UCSF before coming to Boston and completing a medical oncology fellowship at the Dana-Farber/Partners Cancer Care program.